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Daniel G MacArthur

Showing results (71-80 of 216) with videos related to

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Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
The Journal of Clinical Investigation|October 5, 2013
ACTN3 genotype influences muscle performance through the regulation of calcineurin signalingJane T Seto, Kate G R Quinlan, Monkol Lek, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
European Journal of Human Genetics : EJHG|March 27, 2026
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndromeLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.
Current Biology : CB|September 1, 2009
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigreeYali Xue, Qiuju Wang, Quan Long, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating <i>PITX2</i> from a conserved enhancer locusLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Nature Communications|May 18, 2018
A whole-genome sequence study identifies genetic risk factors for neuromyelitis opticaKarol Estrada, Christopher W Whelan, Fengmei Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Pageof 22

Showing results (71-80 of 216) with videos related to

Sort By:
Pageof 22
Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
The Journal of Clinical Investigation|October 5, 2013
ACTN3 genotype influences muscle performance through the regulation of calcineurin signalingJane T Seto, Kate G R Quinlan, Monkol Lek, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
European Journal of Human Genetics : EJHG|March 27, 2026
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndromeLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Human Mutation|September 22, 2018
matchbox: An open-source tool for patient matching via the Matchmaker ExchangeHarindra Arachchi, Monica H Wojcik, Benjamin Weisburd, et al.
Current Biology : CB|September 1, 2009
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigreeYali Xue, Qiuju Wang, Quan Long, et al.
Medrxiv : the Preprint Server for Health Sciences|June 12, 2025
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating <i>PITX2</i> from a conserved enhancer locusLucas A Mitchell, Joshua Schmidt, Emmanuelle Souzeau, et al.
Nature Communications|May 18, 2018
A whole-genome sequence study identifies genetic risk factors for neuromyelitis opticaKarol Estrada, Christopher W Whelan, Fengmei Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing dataMoriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, et al.
Pageof 22